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遗传性运动感觉神经病(HMSN):可能为X连锁显性遗传。

Hereditary motor-sensory neuropathy (HMSN): possible X-linked dominant inheritance.

作者信息

Phillips L H, Kelly T E, Schnatterly P, Parker D

出版信息

Neurology. 1985 Apr;35(4):498-502. doi: 10.1212/wnl.35.4.498.

Abstract

The inheritance of the hereditary motor and sensory neuropathies (HMSN) is usually autosomal dominant. We studied a kinship with a pattern of X-linked dominant inheritance. The phenotype was similar to HMSN of the "intermediate" type. Men were more severely affected than women, and hypertrophic nerves were not found. Nerve conduction was very slow in men, but it was mildly slow or normal in women. No male-to-male transmission was found in six generations.

摘要

遗传性运动和感觉神经病(HMSN)通常呈常染色体显性遗传。我们研究了一个具有X连锁显性遗传模式的家族。其表型与“中间”型HMSN相似。男性比女性受影响更严重,未发现神经肥大。男性的神经传导非常缓慢,而女性的神经传导轻度缓慢或正常。在六代人中未发现男性向男性的传递。

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